Proteus syndrome. A case report of a hamartomatous syndrome with severe mandibular hemihypertrophy.
Proteus syndrome is a rare congenital hamartomatous malformation that is characterized by a wide range of deformities, including craniofacial deformities. Skin and skeletal developmental malformations are common and may assume tremendous proportions. The syndrome is often mistaken for other, more commonly recognized conditions, including neurofibromatosis. The soft-tissue masses in Proteus syndrome are not nerve tumors but are usually hamartomatous proliferations. The case report describes its varied manifestations, which include significant craniofacial dysmorphism, and discusses the differential diagnosis and management.
Pinto
P X
PX
Department of Oral and Maxillofacial Surgery, Carlisle Hospitals NHS Trust, Royal London Hospital, United Kingdom.
Beale
V
V
Paterson
A W
AW
D000328:Adult; D005146:Facial Asymmetry / Q000209:etiology*; D005260:Female; D006801:Humans; D008334:Mandible / Q000002:abnormalities*; D016715:Proteus Syndrome / Q000150:complications / Q000473:pathology*